The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Open accessAbstract
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 in 47 patients from 20 kindreds with AD CMCD. Previously described heterozygous STAT1 mutant alleles are loss-of-function and cause AD predisposition to mycobacterial disease caused by impaired STAT1-dependent cellular responses to IFN-γ. Other loss-of-function STAT1 alleles cause AR predisposition to intracellular bacterial and viral diseases, caused by impaired STAT1-dependent responses to IFN-α/β, IFN-γ, IFN-λ, and IL-27. In contrast, the 12 AD CMCD-inducing STAT1 mutant alleles described here are gain-of-function and increase STAT1-dependent cellular responses to these cytokines, and to cytokines that predominantly activate STAT3, such as IL-6 and IL-21. All of these mutations affect the coiled-coil domain and impair the nuclear dephosphorylation of activated STAT1, accounting for their gain-of-function and dominance. Stronger cellular responses to the STAT1-dependent IL-17 inhibitors IFN-α/β, IFN-γ, and IL-27, and stronger STAT1 activation in response to the STAT3-dependent IL-17 inducers IL-6 and IL-21, hinder the development of T cells producing IL-17A, IL-17F, and IL-22. Gain-of-function STAT1 alleles therefore cause AD CMCD by impairing IL-17 immunity.
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Metadata
- Authors
- Liu, L., Okada, S., Kong, X.-F., Kreins, A. Y., Cypowyj, S., Abhyankar, A., Toubiana, J., Itan, Y., Audry, M., Nitschke, P., Masson, C., Toth, B., Flatot, J., Migaud, M., Chrabieh, M., Kochetkov, T., Bolze, A., Borghesi, A., Toulon, A., Hiller, J., Eyerich, S., Eyerich, K., Gulácsy, V., Chernyshova, L., Chernyshov, V., Bondarenko, A., María Cortés Grimaldo, R., Blancas-Galicia, L., Madrigal Beas, I. M., Roesler, J., Magdorf, K., Engelhard, D., Thumerelle, C., Burgel, P.-R., Hoernes, M., Drexel, B., Seger, R., Kusuma, T., Jansson, A. F., Sawalle-Belohradsky, J., Belohradsky, B., Jouanguy, E., Bustamante, J., Bué, M., Karin, N., Wildbaum, G., Bodemer, C., Lortholary, O., Fischer, A., Blanche, S., Al-Muhsen, S., Reichenbach, J., Kobayashi, M., Rosales, F. E., Lozano, C. T., Kilic, S. S., Oleastro, M., Etzioni, A., Traidl-Hoffmann, C., Renner, E. D., Abel, L., Picard, C., Maródi, L., Boisson-Dupuis, S., Puel, A., & Casanova, J.-L.
- Venue
- Journal of Experimental Medicine
- Publisher
- Rockefeller University Press
- Published
- 2011-07-04
- Volume
- 208
- Issue
- 8
- Pages
- 1635-1648
- ISSN
- 0022-1007 (ISSN-L)
- 1540-9538
- OpenAlex
- W2144280353
- Cited by
- 797
- References
- 8
- FWCI
- 24.79
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Liu, L., Okada, S., Kong, X.-F., Kreins, A. Y., Cypowyj, S., Abhyankar, A., Toubiana, J., Itan, Y., Audry, M., Nitschke, P., Masson, C., Toth, B., Flatot, J., Migaud, M., Chrabieh, M., Kochetkov, T., Bolze, A., Borghesi, A., Toulon, A., . . . Casanova, J.-L. (2011). Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. Journal of Experimental Medicine. https://doi.org/10.1084/jem.20110958
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